Human Genome Epidemiology Literature Finder
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Records 1 - 24 (of 24 Records) |
| Query Trace: Leiomyomatosis and FH[original query] |
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| Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors. The American journal of pathology 2004 Jan 164 (1): 17-22. Lehtonen Rainer, Kiuru Maija, Vanharanta Sakari, Sjöberg Jari, Aaltonen Leena-Maija, Aittomäki Kristiina, Arola Johanna, Butzow Ralf, Eng Charis, Husgafvel-Pursiainen Kirsti, Isola Jorma, Järvinen Heikki, Koivisto Pasi, Mecklin Jukka-Pekka, Peltomäki Päivi, Salovaara Reijo, Wasenius Veli-Matti, Karhu Auli, Launonen Virpi, Nupponen Nina N, Aaltonen Lauri |
| Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. Archives of dermatology 2008 Dec 144 (12): 1584-92. Stewart Laveta, Glenn Gladys M, Stratton Pamela, Goldstein Alisa M, Merino Maria J, Tucker Margaret A, Linehan W Marston, Toro Jorge |
| Multiple hits for the association of uterine fibroids on human chromosome 1q43. PloS one 2013 8 (3): e58399. Aissani Brahim, Wiener Howard, Zhang K |
| MED12 exon 2 mutations in histopathological uterine leiomyoma variants. European journal of human genetics : EJHG 2013 Nov 21 (11): 1300-3. Mäkinen Netta, Vahteristo Pia, Kämpjärvi Kati, Arola Johanna, Bützow Ralf, Aaltonen Lauri |
| Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval. Endocrine-related cancer 2015 Aug 22 (4): 633-43. Aissani Brahim, Zhang Kui, Mensenkamp Arjen R, Menko Fred H, Wiener Howard |
| The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes. Human pathology 2018 01 71 47-54. Udager Aaron M, Magers Martin J, Goerke Dayna M, Vinco Michelle L, Siddiqui Javed, Cao Xuhong, Lucas David R, Myers Jeffrey L, Chinnaiyan Arul M, McHugh Jonathan B, Giordano Thomas J, Else Tobias, Mehra Roh |
| A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC). Familial cancer 2018 2 17 (4): 615-620. Bhola Priya T, Gilpin Cathy, Smith Amanda, Graham Gail |
| Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patients. Histopathology 2019 9 76 (3): 354-365. Liu Chengbao, Dillon Jessica, Beavis Anna L, Liu Yuehua, Lombardo Kara, Fader Amanda N, Hung Chien-Fu, Wu Tzyy-Choou, Vang Russell, Garcia Jairo E, Xing Dey |
| Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma. Human mutation 2019 8 41 (1): 103-109. Zhang Liying, Walsh Michael F, Jairam Sowmya, Mandelker Diana, Zhong Yi, Kemel Yelena, Chen Ying-Bei, Musheyev David, Zehir Ahmet, Jayakumaran Gowtham, Brzostowski Edyta, Birsoy Ozge, Yang Ciyu, Li Yirong, Somar Joshua, DeLair Deborah, Pradhan Nisha, Berger Michael F, Cadoo Karen, Carlo Maria I, Robson Mark E, Stadler Zsofia K, Iacobuzio-Donahue Christine A, Joseph Vijai, Offit Kenne |
| MED12 mutations and fumarate hydratase inactivation in uterine adenomyomas. Human reproduction open 2018 2018 (4): hoy020. Heikkinen Tuomas, Äyräväinen Anna, Hänninen Janne, Ahvenainen Terhi, Bützow Ralf, Pasanen Annukka, Vahteristo P |
| Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2020 7 33 (11): 2341-2353. Popp Bernt, Erber Ramona, Kraus Cornelia, Vasileiou Georgia, Hoyer Juliane, Burghaus Stefanie, Hartmann Arndt, Beckmann Matthias W, Reis André, Agaimy Abb |
| Clinicopathological and molecular features of hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas. Journal of clinical pathology 2020 5 73 (12): 819-825. Furuya Mitsuko, Iribe Yasuhiro, Nagashima Yoji, Kambe Naotomo, Ohe Chisato, Kinoshita Hidefumi, Sato Chika, Kishida Takeshi, Okubo Yoichiro, Numakura Kazuyuki, Nanjo Hiroshi, Nakaigawa Noboru, Makiyama Kazuhide, Hasumi Hisashi, Iwashita Hiromichi, Ohta Junichi, Kitamura Hiroshi, Nakajima Takahiko, Yoshida Takahiro, Nakagawa Masahiro, Tanaka Reiko, Yao Masahi |
| Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer. Cancer 2020 5 126 (16): 3657-3666. Shuch Brian, Li Shantao, Risch Harvey, Bindra Ranjit S, McGillivray Patrick D, Gerstein Ma |
| Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data. Annals of translational medicine 2020 12 8 (21): 1389. Kim Ji-Yeon, Jeong Hyoung-Oh, Heo Dae Seog, Keam Bhumsuk, Moon Kyung Chul, Kwak Cheol, Jang Jinho, Kim Seunghoon, Kim Jong-Il, Lee Semin, Lee Se-Ho |
| Comprehensive Molecular Characterization and Response to Therapy in Fumarate Hydratase-Deficient Renal Cell Carcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2021 3 27 (10): 2910-2919. Gleeson Jack P, Nikolovski Ines, Dinatale Renzo, Zucker Mark, Knezevic Andrea, Patil Sujata, Ged Yasser, Kotecha Ritesh R, Shapnik Natalie, Murray Samuel, Russo Paul, Coleman Jonathan, Lee Chung Han, Stadler Zsofia K, Hakimi A Ari, Feldman Darren R, Motzer Robert J, Reznik Ed, Voss Martin H, Chen Ying-Bei, Carlo Maria |
| Hereditary Leiomyomatosis and Renal Cell Cancer-Recognizing Patterns May Save Lives. Journal of kidney cancer and VHL 2022 9 9 (2): 27-31. Catarina Tavares, Quental Maria Sofia, Brandão José Ricardo, Silva-Ramos Migu |
| A Clinicopathologic and Molecular Analysis of Fumarate Hydratase-deficient Pheochromocytoma and Paraganglioma. The American journal of surgical pathology 2022 8 47 (1): 25-36. Fuchs Talia L, Luxford Catherine, Clarkson Adele, Sheen Amy, Sioson Loretta, Elston Marianne, Croxson Michael S, Dwight Trisha, Benn Diana E, Tacon Lyndal, Field Michael, Ahadi Mahsa S, Chou Angela, Clifton-Bligh Roderick J, Gill Anthony |
| Fumarate hydratase gene germline variants and mosaicism associated with pheochromocytoma and paraganglioma. Annals of the New York Academy of Sciences 2022 7 1516 (1): 262-270. Ma Xiaosen, Cui Yunying, Gao Yinjie, Zhang Xuebin, Nie Min, Tong An |
| Clinicopathological and molecular characteristics of fumarate hydratase-deficient uterine smooth muscle tumors: a single-center study of 52 cases. Human pathology 2022 6 126 136-145. Li Hui, Yang Wentao, Tu Xiaoyu, Yu Lin, Huang Dan, Cheng Yufan, Chang Bin, Tang Shaoxian, Ge Huijuan, Bao Longlong, Zhou Xiaoyan, Bi R |
| A Clinicopathological and Molecular Analysis of Fumarate Hydratase (FH)-deficient Renal Cell Carcinomas with Heterogeneous Loss of FH Expression. International journal of surgical pathology 2022 1 30 (6): 606-615. Anderson William J, Tsai Harrison K, Sholl Lynette M, Hirsch Michelle |
| Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of hereditary Leiomyomatosis and renal cell cancer (HLRCC). Human molecular genetics 2023 8 . Daniel R Crooks, G Mariah Cawthon, Christina M Fitzsimmons, Minervo Perez, Christopher J Ricketts, Cathy D Vocke, Ye Yang, Lindsay Middelton, Debbie Nielsen, Laura S Schmidt, Mayank Tandon, Maria J Merino, Mark W Ball, Jordan L Meier, Pedro J Batista, W Marston Lineh |
| Genomic profiles of renal cell carcinoma in a small Chinese cohort. Frontiers in oncology 2023 7 13 1095775. Sheng Tai, Dan-Dan Xu, Zhixian Yu, Yu Guan, Shuiping Yin, Jun Xiao, Song Xue, Chaozhao Lia |
| Fumarate Hydratase Variants and their Association with Paraganglioma/Pheochromocytoma. Urology 2023 2 . Zavoshi Shirin, Lu Eric, Boutros Paul C, Zhang Liying, Harari Avital, Hatchell Kathryn E, Nielsen Sarah M, Esplin Edward D, Ouyang Karen, Nykamp Keith, Wilde Blake, Christofk Heather, Shuch Bri |
| Clinical and molecular risk factors for repeat interventions due to symptomatic uterine leiomyomas. American journal of obstetrics and gynecology 2024 8 . Sara Khamaiseh, Anna Äyräväinen, Maare Arffman, Siiri Reinikka, Miika Mehine, Päivi Härkki, Ralf Bützow, Annukka Pasanen, Pia Vahteris |
- Page last reviewed:Feb 1, 2024
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